Linked Data
dbSNP Id:
rs760445665
ExAC:
3:48605586 A / C
gnomAD v2:
3-48605586-A-C
gnomAD v3:
3-48568153-A-C
gnomAD v4:
3-48568153-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568153A>C , CM000665.2:g.48568153A>C | GRCh38 |
| NC_000003.11:g.48605586A>C , CM000665.1:g.48605586A>C | GRCh37 |
| NC_000003.10:g.48580590A>C | NCBI36 |
| NG_007065.1:g.32100T>G , LRG_286:g.32100T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7812T>G MANE Select | ENSP00000506558.1:p.Asp2604Glu | |
| ENST00000328333.12:c.7812T>G | ENSP00000332371.8:p.Asp2604Glu | |
| ENST00000459756.5:n.635T>G | ||
| ENST00000487017.5:n.4451T>G | ||
| NM_000094.3:c.7812T>G , LRG_286t1:c.7812T>G | NP_000085.1:p.Asp2604Glu | |
| XM_011533336.1:c.7839T>G | XP_011531638.1:p.Asp2613Glu | |
| XM_011533337.1:c.7812T>G | XP_011531639.1:p.Asp2604Glu | |
| XM_011533338.1:c.7779T>G | XP_011531640.1:p.Asp2593Glu | |
| XM_011533339.1:c.*44T>G | XP_011531641.1:n.*44T>G | |
| XR_940369.1:n.7875T>G | ||
| XR_940370.1:n.7875T>G | ||
| XR_940371.1:n.7875T>G | ||
| XR_940372.1:n.7849T>G | ||
| XM_017005688.1:c.7752T>G | XP_016861177.1:p.Asp2584Glu | |
| XM_017005689.1:c.*44T>G | XP_016861178.1:n.*44T>G | |
| XR_001740003.1:n.7848T>G | ||
| XR_001740004.1:n.7848T>G | ||
| XR_001740005.1:n.7848T>G | ||
| XR_001740006.1:n.7822T>G | ||
| NM_000094.4:c.7812T>G MANE Select | NP_000085.1:p.Asp2604Glu |